Osadchyi Vladimir, Vredenburgh James
Internal Medicine, University of Connecticut, Farmington, USA.
Hematology and Oncology, Saint Francis Hospital, Hartford, USA.
Cureus. 2024 Jul 5;16(7):e63910. doi: 10.7759/cureus.63910. eCollection 2024 Jul.
Ewing sarcoma (ES) is an uncommon and highly aggressive bone malignancy that predominantly occurs in children and young adults. Extraosseous Ewing sarcoma (EES), an even rarer variant, can present in the soft tissues instead of bone. In this case report, we detail a previously healthy 28-year-old male presenting with an isolated enlarged left inguinal lymph node, subsequently diagnosed as EES. The patient presented with a three-month history of a non-tender, gradually enlarging lump in the left groin. Fine needle aspiration revealed a small round blue cell tumor with a high Ki-67 score, and subsequent excisional biopsy identified a rare genetic fusion mutation. Postoperative positron emission tomography (PET)/computed tomography (CT) scan did not show any fludeoxyglucose F18 (FDG) uptake lesions to suggest residual malignancy. The patient is currently awaiting chemotherapy. Throughout the discussion of this case, we highlight the importance of considering EES in the differential diagnosis of isolated lymph node enlargement, the role of genetic testing in diagnosis, and the treatment modalities offered.
尤因肉瘤（ES）是一种罕见且侵袭性很强的骨恶性肿瘤，主要发生于儿童和青年。骨外尤因肉瘤（EES）是一种更为罕见的变异型，可出现在软组织而非骨骼中。在本病例报告中，我们详细介绍了一名此前健康的28岁男性，他因孤立性左侧腹股沟淋巴结肿大就诊，随后被诊断为EES。患者左侧腹股沟出现一个无痛性、逐渐增大的肿块，病程为三个月。细针穿刺显示为小圆形蓝细胞肿瘤，Ki-67评分较高，随后的切除活检发现了一种罕见的基因融合突变。术后正电子发射断层扫描（PET）/计算机断层扫描（CT）未显示任何氟脱氧葡萄糖F18（FDG）摄取病灶，提示无残留恶性肿瘤。该患者目前正在等待化疗。在对本病例的讨论中，我们强调了在孤立性淋巴结肿大的鉴别诊断中考虑EES的重要性、基因检测在诊断中的作用以及所提供的治疗方式。
